Referring Provider Letter (Genetic Consultation Summary)

Date: [date of letter]

To: [referring clinician name, credentials, practice]

Patient: [patient full name], [DOB], [MRN]

From: [genetic counselor and/or medical geneticist name, credentials], [clinic/program], [contact info]

Re: [Patient name] — [primary indication or clinical question]

Dear [referring clinician name]: [Brief thank you for the referral]. The consultation was completed via [telehealth / in-person] on [consultation date]. [Reason for referral in one sentence].

Key Takeaways / Action Items

(Provide 4–8 bullets prioritizing diagnosis, testing status, immediate steps, family implications, and follow-up. Omit bullets that do not apply.)

• Impression: [Working diagnosis or genetic risk assessment] (Use appropriate uncertainty language: consistent with / suggestive of / raises concern for.)
• Testing status: [Summary of completed results and interpretation, or tests ordered/pending with expected turnaround]
• Immediate actions: [Specific management steps requested of the referring team, including time-sensitive items]
• Surveillance: [Recommended monitoring, responsible specialty, and interval if specified]
• Family implications: [Cascade testing recommendations and priority relatives, with inheritance pattern if relevant]
• Follow-up: [Next steps, who will coordinate, and timing]

Clinical Summary

[Referral indication and consultation context]. [Pertinent patient phenotype and medical history, including key features, onset, and course—attribute sources explicitly: per patient report, records reviewed]. [Family history highlights: affected relatives, ages at diagnosis, ancestry if relevant, and notable negatives; state limitations such as small family size, adoption, or unavailable information]. [Genetic risk assessment or impression with differential diagnoses and inheritance considerations as relevant]. (Organize by problem if multiple issues exist. Use precise, non-speculative language. If family history is limited or unknown, state why rather than omitting.)

Genetic Testing

• Tests reviewed: [Test name/type], [laboratory], [result: pathogenic / likely pathogenic / VUS / negative / inconclusive], [key findings and clinical interpretation including diagnostic significance, management implications, and family testing recommendations]. (Reference official lab report for full methods. For VUS, note that management should not be based on this finding alone.)
• Tests ordered/pending: [Test name/type], [laboratory], [indication], [expected turnaround], [result disclosure plan: phone / portal / visit]. (For exome/genome, note secondary findings decision: opted in / opted out.)

Recommendations & Follow-up

(Prioritize by problem or diagnosis. Clearly distinguish what genetics will coordinate versus what the referring team should initiate.)

• [Diagnosis/Problem]: [Confirmatory evaluations, surveillance with modality/interval/specialty, treatment or risk-reduction considerations, referrals, and family cascade testing plan with priority relatives]
• Coordination: [Actions genetics will coordinate] / [Actions for referring team to initiate]
• Follow-up: [How and when results will be communicated], [next genetics visit timing if applicable], [reanalysis or re-contact expectations for exome/genome]

Thank you for the referral and collaboration in your patient's care. Please contact us with any questions.

Sincerely,

[Genetic counselor and/or medical geneticist name], [credentials]
[Clinic/Program]
[Phone] | [Fax] | [Secure email/portal]

CC: [Care team recipients] (Include only if applicable.)